Phenotype #0000055483

Individual ID 00075708
Associated disease -
Phenotype details retinitis pigmentosa; light perception only in each eye, and the retinal examination documented advanced extensive pigmentary retinopathy with optic atrophy and dense diffuse bone spicule formations in each eye; age onset 0-10y
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset progressive loss of both dim light and peripheral vision
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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